Genetics and Newborn Screening
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Illinois Newborn Screening Panel

The Illinois newborn screening panel currently includes the following endocrine, hemoglobin and metabolic disorders. While neonatal screening is effective in detecting many of these disorders in asymptomatic infants, some forms and genotypes of the disorders are not reliably detected by neonatal screening or are extremely rare in the Illinois newborn population.

Endocrine Disorders
  Congenital adrenal hyperplasia (CAH)
  Congenital hypothyroidism
  Sickle cell disease and other sickling hemoglobinopathies
  Alpha and βeta thalassemia
Metabolic Disorders
  Biotinidase deficiency
  Cystic fibrosis (CF)
  Amino acid disorders
    Phenylketonuria (PKU) / Hyperphenylalaninemia
    Maple syrup urine disease (MSUD)
    Tyrosinemia, type 1 and possibly type 2 or type 3 - tyrosine levels may not be sufficiently elevated for detection
    Homocystinuria / Hypermethioninemia
    5-oxoprolinuria (glutathione synthetase deficiency) - may not be reliably detected in first days of life
  Urea cycle disorders
    Citrullinemia (argininosuccinate synthetase deficiency)
    Argininosuccinic aciduria (argininosuccinate lyase deficiency)
    Argininemia - extremely rare
  Organic acid disorders
    2-methylbutyryl-CoA dehydrogenase deficiency (2MBD)
    3-methylcrotonyl-CoA carboxylase deficiency (3MCC)
    3-hydroxy-3-methylglutaric-CoA lyase deficiency (3HMG)
    3-methylglutaconic aciduria (3MGA)
    Glutaric aciduria, type 1 (GA1)
    Propionic acidemia (PA)
    Isovaleric acidemia (IVA)
    Methylmalonic acidemia (MMA)
    Malonic aciduria (MA) - may not be reliably detected in first days of life
    Beta-ketothiolase deficiency (BKT)
    Multiple carboxylase deficiency (MCD)
  Fatty acid oxidation disorders
    Short chain acyl-CoA dehydrogenase deficiency (SCAD)
    Medium/Short chain L-3-hydroxyacyl-CoA-dehydrogenase deficiency (M/SCHAD)
    Isobutyryl-CoA dehydrogenase deficiency (IBCD)
    Medium chain acyl-CoA dehydrogenase deficiency (MCAD)
    Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)
    Very long chain acyl-CoA dehydrogenase deficiency (VLCAD)
    Trifunctional protein deficiency (TFPD)
    Carnitine palmitoyl transferase deficiency type 2 (CPT2) - neonatal form, extremely rare
    Carnitine palmitoyl transferase deficiency type 1 (CPT1A) - may not be reliably detected in first days of life
    Carnitine/acylcarnitine translocase deficiency (CACT) - neonatal form, extremely rare
    Carnitine uptake defect (CUD) - may not be reliably detected in first days of life
    Multiple acyl-CoA dehydrogenase deficiency (MADD) / Glutaric aciduria, type 2 (GA2)
  Lysosomal storage disorders
(Statewide screening of newborns for lysosomal storage disorders is scheduled to begin in 2014.)
    Fabry Disease
    Gaucher Disease
    Krabbe Disease
    MPS 1 (Hurler Syndrome)
    Niemann Pick Disease
    Pompe Disease
  Severe combined immune deficiency
IDPH Online Home
IDPH Online Home

Illinois Department of Public Health
535 West Jefferson Street
Springfield, Illinois 62761
Phone 217-782-4977
Fax 217-782-3987
TTY 800-547-0466
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